Krystal Sully
A5021452959- Epilepsy research and treatment
- Neurological disorders and treatments
- Ion channel regulation and function
- Genetics and Neurodevelopmental Disorders
- Polyomavirus and related diseases
- Genomics and Rare Diseases
- RNA and protein synthesis mechanisms
- Genetic and Kidney Cyst Diseases
- Tuberous Sclerosis Complex Research
- Neuroscience and Neural Engineering
- Functional Brain Connectivity Studies
- Migraine and Headache Studies
- Vagus Nerve Stimulation Research
- Cardiac electrophysiology and arrhythmias
Texas Children's Hospital
2022-2023
Baylor College of Medicine
2022-2023
Duke University
2018
Duke University Hospital
2018
Duke Medical Center
2018
Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well milder phenotypes associated with genetic febrile seizures plus. Gain of function SCN1A are familial hemiplegic migraine type 3. Novel SCN1A-related have been described including early infantile developmental and epileptic encephalopathy movement disorder, more recently neonatal presentations arthrogryposis. Here we describe clinical, functional evaluation affected...
Abstract AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded GRIA1–GRIA4 genes, which only GRIA3 is X-chromosomal. Increasing numbers missense variants are reported patients with neurodevelopmental disorders (NDD), but a few have been examined functionally. Here, we evaluated impact on AMPAR function one frameshift and 43 rare identified NDD...
BACKGROUND: Surgery has become integral in treating children with tuberous sclerosis complex (TSC)–related drug-resistant epilepsy (DRE). OBJECTIVE: To describe outcomes of a multimodal diagnostic and therapeutic approach comprising invasive intracranial monitoring surgical treatment compare the complementary techniques open resection magnetic resonance–guided laser interstitial thermal therapy. METHODS: Clinical radiographic data were prospectively collected for pediatric patients...
In carefully selected patients with medically refractory epilepsy, disconnective hemispherotomy can result in significant seizure freedom; however, incomplete disconnection ongoing seizures and poses a challenge. Completion provides an opportunity to finish the disconnection. We describe use of magnetic resonance-guided laser interstitial thermal ablation (MRgLITT) for completion hemispherotomy.Patients treated using MRgLITT at our institution were identified. Procedural outcomes evaluated...
Abstract The introduction of neuromodulation was a revolutionary advancement in the antiseizure armamentarium for refractory epilepsy. basic principle is to deliver an electrical stimulation desired neuronal site modify functions not only at delivery but also distant sites by complex processes like disrupting circuitry and amplifying marginally functional neurons. modality considered open-loop when provided set time interval or closed-loop delivered response incipient seizure....